Research Notebooks

Computational case studies in splice-site prediction, transposable elements, and RNA biology. Each notebook is a self-contained investigation — part scientific report, part interactive exploration.

RetroSpect active

In silico Alu Mutagenesis Pinpoints the F8 Intron 18 Branch Point

24 Alu insertions scored by SpliceAI and AlphaGenome place the branch point at −27, consistent with exon 19 skipping in three unrelated patients

15 min read
RetroSpect active

An Alu Insertion in F8 Intron 18 Causes Exon Skipping and Severe Hemophilia A

Can deep learning splice-site models detect that a 331 bp Alu insertion 19 bp upstream of an exon abolishes splicing — and why it does?

20 min read